leber's optic atrophy

Preferred Label : leber's optic atrophy;

Details

Origin ID

DA-77528;

UMLS CUI

C0917796;

Automatic exact mappings (from CISMeF team)
- Leber hereditary optic neuropathy [DO Concept]
Currated CISMeF NLP mapping
- Leber Hereditary Optic Atrophy [NCIt concept]
- Leber hereditary optic neuropathy [ICD-11 More detail]
- Leber hereditary optic neuropathy [ORDO Disease]
- Leber optic atrophy [OMIM Phenotype]
- Leber optic atrophy [HPO term]
- Leber optic neuropathy [PASCAL descriptor]
- Leber's optic atrophy (disorder) [SNOMED CT concept]
- optic atrophy, hereditary, leber [MeSH Descriptor]
- optic atrophy, hereditary, leber [MeSH concept]
Has phenotype(s) (HPO)
- Abnormality of cardiac conduction [HPO term]
- Muscle biopsy shows nonspecific myopathic changes [HPO term]
ICD-10 exact mapping(s)
- Optic atrophy [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Leber plus disease [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Mitochondrial disease with dilated cardiomyopathy [ORDO Disease]
- Mitochondrial disease with eye involvement [ORDO Disease]
- Mitochondrial disease with hypertrophic cardiomyopathy [ORDO Disease]
Metaterm(s)
- ophthalmology [CISMeF Metaterm]
SNOMED CT concept
- Leber's optic atrophy (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber Hereditary Optic Atrophy [NCIt concept]
- Leber hereditary optic atrophy [Disease (Nov.)]
- Leber hereditary optic neuropathy [ORDO Disease]
- Leber hereditary optic neuropathy [DO Concept]
- Leber optic atrophy [OMIM Phenotype]
- Leber optic atrophy [HPO term]
- Leber's hereditary optic atrophy neuropathy [MedDRA LLT]
- Leber's optic atrophy (disorder) [SNOMED CT concept]
- optic atrophy, hereditary, leber [MeSH Descriptor]
- optic atrophy, hereditary, leber [MeSH concept]

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